For some people, the end of Summer means the start of school. Here at the office “Back to School” means helpful happy interns. Several interns from Sacramento State University and Cristo Rey High School (Sacramento) are working on website articles, informational materials, the Awareness Campaign, and more. Our Sac State interns are in health-related programs and our high school interns are part of a Work-Study program. The work done by them saves the IPPF thousands of dollars each year while giving them real-world experiences.

Volunteerism is on the rise! Daphna Smolka is working with us on a P/P friendly cookbook that will be also be a P/P Community effort. Tina Lehne is spearheading the Awareness Ambassador effort and preparing the program’s requirements and materials. Marketing guru Edie DeVine is helping with our public messaging and press releases. Dr. Maulik Dhandha is working on a paper reporting on the diagnostic delays of P/P we hope to publish in an academic journal.

And speaking of journals, members of our Medical Advisory Board joined 30 other physicians in finalizing an MMP consensus statement providing clearer definitions and outcome measures for accurate and reproducible definitions for disease extent, activity, outcome measures, end points and therapeutic response. Thank you Prof. Dedee Murrell and Dr. Victoria Werth for leading this effort.

This issue of the Quarterly is another great one! PV patient Martha Cusick was so happy with the help she received from her Peer Health Coach, she set a goal to fundraise for research and awareness (p. 4). And what do you do when you need a cancer treatment, but getting it will cause a severe flare? Read Joan Blender Ominsky’s story on page 15.

The Awareness Campaign has a new look, more help, and a catchy slogan. Kate Frantz keeps you up to date starting on page 6. Clinical psychologist and PV patient Terry Wolinsky McDonald explains the Nuts & Bolts of Depression (p. 7). The discovery of VH1-46 is the topic of two articles (pp. 8 and 9). Two P/P experts discuss the importance of measuring patient quality of life (p. 11). And we have another delicious Vicky Starr recipe on page 19!

Lastly, I hope to see you in New York for our 2015 Patient Conference. The Committee is busy finalizing the date (end of April) and venue (near Central Park). Keep an eye on your mailbox and inbox for more information in the coming months! I promise this event will be BIG!

Will Zrnchik, IPPF CEO, along with former board member Dr. Sahana Vyas, kicked off the weekend late Friday afternoon. Will provided an overview of the weekend to come and emphasized the importance of community participation in the IPPF. Volunteerism, fundraising, and participation in programs are all ways everyone can show support.

Dr. Animesh Sinha (University of Buffalo) began with his session on pemphigus. He discussed the clinical features of the disease, and how the specific antibodies that attack the glue in your skin cells are formed, as well as what it looks like when the cells come unglued under a microscope. Dr. Sinha talked about the genetic markers for pemphigus and how the incidences are seen more often in certain groups of people than others. He gave newly diagnosed patients a really good picture of what it looks like to live with the disease. In closing, Dr. Sinha encouraged patients and their relatives to donate blood to further his research on the causes of pemphigus and to create better treatments.

Dr. Amit Shah (University of Buffalo) presented on the IPPF Registry and what the data tells us. Pemphigus and pemphigoid are rare diseases so having a registry helps promote better understanding of the diseases around the world. A primary goal of the study is to investigate different characteristics of patients enrolled. The registry shows gender prevalence, average age, and racial/genetic breakdowns are. The registry data tells us more women diagnosed, and the average age of onset is 40-60 years. The data indicates women have mucosal activity more than men, while men are more prone to skin lesions. These findings will help researchers and physicians expand their knowledge of the disease.

Dr. Razzaque Ahmed (Boston Blistering Disease Clinic) rounded out the evening with an overview of pemphigoid. He explained how pemphigoid was different from pemphigus by location and look of the blisters. He said mucous membrane pemphigoid (MMP) and cicatricial pemphigoid (CP) typically affect middle-aged (and older) individuals. He explained the differences between bullous pemphigoid (BP) & MMP stating with ocular MMP the trachea can also be affected. Dr. Ahmed emphasized that early diagnosis and treatment is essential, especially with MMP (individuals can lose their sight or breathing capacity due to scarring).

Sahana and Will opened Saturday’s session with a warm welcome and were followed by IPPF Board President, Dr. Badri Rengarajan. Badri began with the importance of the IPPF to people with P/P – newly diagnosed, in a flare, in remission, and everywhere in between. He told the audience the Foundation makes all its resources available to patients, caregivers, family members, and medical professionals free of charge. Knowing this, it is equally important for the Foundation going forward to continue to help others for years to come. Badri mentioned four ways the Foundation helps patients: improving quality of life; reducing diagnostic time; understanding and coping with flares; and supporting new diagnostic methods and research. The asked the audience to reach out to the Foundation when they need help and to support the Foundation to increase our services.

Dr. Sergei Grando (University of California – Irvine) discussed prednisone (what corticosteroids are commonly known as) and how steroids work. He mentioned side effects of steroids and affects on patients. He suggested the treatment process should be a team effort. Dr. Grando also spoke on adjuvant drugs (to reduce steroid doses) and the use of IVIg and an immunosuppressive to reduce disease activity.

Dr. Razzaque Ahmed returned to the stage for a talk on treatment side effects. He commented on how extreme cases of P/P can end up in burn units — not an appropriate treatment. Dr. Ahmed suggested a patient’s treating physicians should be told what drugs are being taken so treatment for additional problems is carefully coordinated. He talked about prednisone side effects and the importance of keeping track of them to share with your physician. He discussed side effects of immunosuppressives (such as Imuran®, CellCept®, and Cytoxan® and their link to cancer), IVIG, Rituxan®, and other treatments. At the end, Dr. Ahmed emphasized open communication with all a patient’s physicians to ensure the best possible care.

Did you know 13 million liters of plasma are collected each year, and the antibodies extracted from this plasma is what makes IVIG? Dr. Michael Rigas (KabaFusion) explained this, and more in his talk. He told the audience how the drug is made, where it comes from, and why it costs what it does. Dr. Rigas then explained how it is administered to a patient, and what patients should expect after the infusion. He said IVIG as a P/P treatment is not approved by the United States FDA. He closed by saying there are many factors to be considered before a patient gets IVIG and to talk with your doctor if you have questions.

Dr. Grant Anhalt (Johns Hopkins University) presented on the physiology of PV. He explained how and why the cells detach from one another. He said many currently-prescribed anti-inflammatory drugs do nothing to inhibit antibody production. He provided a recap of Imuran®, CellCept®, IVIG, and rituximab and how they work on P/P. He has found rituximab has been very successful in the treatment of PV without the side effects commonly found in cancer drugs. Dr. Anhalt described how rituximab destroys maturing B-cells for 6-9 months and how results of several studies showed the success of rituximab in early stages of PV.

Victoria Carlan (IPPF Board member and founder of the Canadian Pemphigus & Pemphigoid Foundation) talked about personal support networks. She opened with her personal PV journey explaining the importance of her support network, and how she used it to live successfully with P/P. This enabled her to find answers and find encouragement. She explained how support networks can build-up physical, mental and emotional strengths.

IPPF Awareness Program Manager Kate Frantz talked about the IPPF’s Awareness Campaign. Building awareness in the medical community is important to reducing diagnostic time for patients. She said we can all help with awareness in our won ways. One way is becoming an Awareness Ambassador in your community. Awareness Ambassadors will go into their community to spread P/P awareness. Others ca write to newspapers, speak at professional gatherings, and engage others in your community. She stressed the importance of spreading awareness through social media to help create a “brand” others can relate to the IPPF and P/P.

One of the IPPF Awareness Campaign’s Patient Educators, Rebecca Strong, discussed additional ways to spread awareness. People can write to their federal, state, and local representatives encouraging them to be involved with improving your health and supporting legislation that benefits all of us. Be your own advocate and ask those you know who might be able to help advocate for you. There really truth to the Power of One.

Dr. Firdaus Dhabhar (Stanford University) presented on stress & autoimmunity. Dr. Dhabhar discussed the biological responses that happen with stress are not always negative, but can be positive. Short-term, acute stresses (such as surgery, vaccinations, etc.) can enhance positive immune response. However, chronic, long-term stresses have negative effects on the body. With long-term stresses, the goal is to minimize their effects with better sleep, nutrition, exercise, calming activities, or whatever works for you.

This successful segment was followed up with a 90-minute teleconference in May 2014 where over 80 people registered with 40 people on the call at any given time.

Following the patient panel, the IPPF hosted several workshops. These smaller, focused sessions were on topics such as different stress reduction methods, diet and nutrition, oral care, ocular concerns, IVIG, and reimbursement issues. There was also a successful focus group centered on the Awareness Campaign.

Once the workshops concluded, attendees gathered back in the main room for a Q&A with some of the weekend’s speakers. Questions were asked, debated, and answered by experts from different specialties.

Will and Badri reminded everyone we all can be involved in making sure newly diagnosed patients get the help they need by participating in IPPF programs and donating to our cause. And during his closing remarks, Will announced the 2015 Patient Conference will be in New York, and information will flow as it is available.

About IPPF

The International Pemphigus & Pemphigoid Foundation’s most important objectives are to provide patients and doctors worldwide with information about pemphigus and pemphigoid, and to provide patients and their caregivers much needed comfort and support so they can continue to live active, productive lives.Read more »

of COL17 to test the effect of BP (human) patient-derived
antibodies. Generally, mice are a great experimental
model for studying the human immune system
since the mouse and human systems have been
found to be mechanistically very similar.
The authors genetically removed C3 from the humanized
COL17 mice and showed that indeed, they
lack the complement system. The authors also isolated
four different autoantibodies from four different
BP patients and found they vary in the degree
to which they activate the complement system. All
of the BP antibodies could induce skin detachment
(characteristic of blisters) when injected into either
the normal mice or in the complement-deficient
mice, demonstrating the complement system is likely
not at play in BP blister formation.
They next developed new antibodies that recognize
the exact same portion of COL17 and found a
correlation between the level of COL17 recognized
by the autoantibodies and blister formation. Recent
studies have shown COL17 antibodies not only recognize
and bind COL17 but also deplete it from cultured
cells. Ujiie and colleagues repeated that result show it
is complement-independent. As well, they find the
same effect of COL17 depletion in the COL17-humanized
mice - the antibodies caused blisters and
simultaneously reduced the amount of COL17.
Finally, the authors found that this was due to an
induction of the ubiquitin-proteasome system, the
machinery of cells that acts as a garbage disposal for
unwanted proteins. In this case, the COL17 autoantibodies
somehow mark the otherwise normal COL17
for destruction, possibly setting the stage for BP
symptoms and disease.
Several mechanisms may still be at play to mediate
the effects of COL17 autoantibodies generated
by BP patients (see figure). These include a degradation
system, as suggested from the current work or
COL17 may be internalized into cells upon binding of
the autoantibodies, as has been seen in studies from
other labs. It is also possible that COL17 gets internalized
first and then the intracellular proteasome
system degrades it. In any case, COL17 targeting by
BP autoantibodies is a probably occurring by a more
direct mechanism than if it involved the complement
system.
It is possible that BP shares a mechanistic basis with
other autoimmune mucocutaneous diseases such as
pemphigus vulgaris, where autoantibodies recognize
desmoglein proteins Dsg1 and Dsg3 in keratinocytes
of the epidermis. Therefore, understanding the underlying
mechanisms at play in blister formation in
the various P/P diseases will be applicable to all patients

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Awareness Campaign

Treatments

Treatments

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Cicatricial pemphigoid

What is cicatricial pemphigoid?

Cicatricial pemphigoid is an autoimmune disease that is characterised by blistering lesions on mucous membranes. It is also called benign mucous membrane pemphigoid or oral pemphigoid. Areas commonly involved are the oral mucosa (lining of the mouth) and conjunctiva (mucous membrane that coats the inner surface of the eyelids and the outer surface of the eye). Other areas that may be affected include the nostrils, oesophagus, trachea and genitals. Sometimes the skin may also be involved where blistering lesions can be found on the face, neck and scalp.
Brunsting Perry cicatricial pemphigoid is a rare variant in which localised crops of recurrent blisters arise within urticarial plaques, usually on the head and neck. The blisters may burst resulting in blood-crusted plaques and scars.

Who gets cicatricial pemphigoid?

Cicatricial pemphigoid is predominantly a disease of the elderly with a peak incidence at around 70 years. However, childhood cases have been reported. It appears to be twice as common in women than men.

What are the signs and symptoms of cicatricial pemphigoid?

Site

Features

Eye

Sensation of grittiness or pain

Conjunctivitis

Lesions form, erode and heal to leave scar tissue

May lead to impaired vision or blindness

Mouth

Blisters form first on the gums near the teeth

Palate, tongue, lips, buccal mucosa, floor of the mouth and throat may be affected

Painful and make it difficult to eat

Lesions occurring in the throat (oesophagus, trachea and larynx) can become life-threatening

Skin

Blisters on the skin develop in 25-30% of patients

May be itchy

Bleeding may occur if traumatised

Nose

Nose bleeds after blowing the nose

Crusting causing discomfort

Genitals

Painful blisters and erosions on the clitoris, labia, shaft of the penis, perianal area

What causes cicatricial pemphigoid?

Cicatricial pemphigoid is an autoimmune blistering disease, which basically means that an individual's immune systems starts reacting against his or her own tissue. In this particular instance autoantibodies react with proteins found in mucous membranes and skin tissue resulting in blistering lesions. The binding site appears to be within the anchoring filaments that help the epidermis (outside layer of skin) stick to the dermis (inner layer of skin).
Full article from DermNet NZ
http://www.dermnetnz.org/immune/cicatricial-pemphigoid.html

Should

Vanguard Health is the latest company that's signed up with the Dossia Consortium to offer its employees electronic health records as a work benefit.

But when will it become mainstream for any and all patients to access their health records electronically, rather than it being a rare job perk for some?

The HITECH federal stimulus legislation signed into law in February not only offers healthcare providers financial rewards starting in 2011 for their meaningful use of e-medical record and other health IT systems. The law also gives patients the right to access to their personal health information electronically, too.

That might seem like a given-- of course it makes sense for patients to have access to their medical data-- after all, it's information about their health, right? But with all the challenges involved with hospitals and doctors making the transition from paper to electronic records, and them figuring out how to share patient data (and many aren't anxious to do that for competitive and other reasons,) you have to wonder how much effort they'll spend--at least initially--in their IT project plans to provide patients with access to their digitized data.

How much of this information should they show patients? Could the data be misunderstood or taken out of context by patients? What about security and privacy worries? Those are just a few of the many concerns some healthcare providers have about giving patients an electronic window into their health data.

While healthcare providers figure that all out, some employers--like Dossia member companies-- have already decided to get a jump on providing patients access to at least some of their health data in the hopes that it will help employees better manage chronic and other medical problems they and their dependents face. So far, much of the data for Dossia e-health records comes from the payers, health plans, pharmacies that provide various services to Dossia employees via their health benefit packages. The data for the most part isn't coming directly from the actual doctors and hospitals caring for these patients.

Since so many Americans get their health coverage from their jobs, it's not all that surprising that many patients who also have electronic access to their health data are able to do so because their employers are providing e-health records as a work perk.

But the goal is that eventually for more patients to see their health data because their doctors and hospitals are providing secure access to that information, too.

Autoimmunity

The function of the immune system was critical to survival of our species. Prior to the 20th century man’s greatest killers were, in fact, infectious diseases. It is important to note that not everyone’s immune system functions in the same way because genetic diversity determines how one individual will react to a given infection. Diversity in the immune response has protected us from devastating events. For example, not everyone who got the bubonic plaque died. Some individual had a genetically programmed immune response that was more effective than others and they were able to survive. There are many examples of that throughout history of our species.

Because of this the immune system has to be adaptable enough to identify even infectious agents that hadn’t existed before. The HIV virus is a good example. To generate such enormous diversity, the controls of the immune system are extraordinarily complex. For these reasons, autoimmunity - which is a malfunctioning of the control of the normal immune system - is also complex and multi-factorial.

A reporter asked me a very important question, “Why should I put an article about pemphigus in my paper since it is such a rare disease and only affects such a few number of people?” Well, the answer is that autoimmune diseases are actually the 3rd most common human ailment behind cardiovascular disease and cancer. The prevalence of autoimmunity has been under-appreciated because many of the diseases are so organ specific that they fractionated to the “turf” of individual specialties. For example, thyroiditis is an endocrine problem. Lupus is a rheumatologic disease. Inflammatory bowel disease is seen by gastroenterologists. Multiple sclerosis is a neurologic disease. However, if you lump all autoimmune diseases together, it is an incredible important problem for our population. Advances in understanding one autoimmune disease can often translate into better understanding of other autoimmune diseases.

What are the key components of the immune system? There are cells that are called antigen presenting cells. These cells ingest and process foreign organisms such as a virus, a fungus, or bacteria which invade the body. They are then presented to the immune system so that the immune system can respond. There are two different kinds of cells that direct the immune response: T-Cells and B-Cells. These are your soldiers of the immune response. T-Cells are the killer cells and the production of protective antibodies is directed by B-Cells. Some B-Cells mature into plasma cells and they produce a serum protein called an antibody. These antibodies then protect you against foreign organisms. For example, when you get a diphtheria shot as a child, you make antibodies against that diphtheria toxin and those antibodies neutralizes any toxin they encounter. These antibodies keep some diseases away.

In pemphigus, the key players are antibodies because the disease and the damage to the skin is caused by antibodies. Not by the killer cells – T-Cells, but by antibody. Actually antibodies look like a little a “Y”. Antibodies directed against the skin attack the skin cells and cause them to fall apart.

The immune system is very specific. Certain cells are programmed to produce certain antibodies. It is kind of a lock and key type recognition system. Antibodies will bind to only those proteins that it is programmed to bind against. In pemphigus, desmogleins (the “glue”) in skin cells are recognized as an invading organism. Anti-desmoglein antibodies are then produced. Pemphigus is difficult to treat and there are known reasons for that. Antibodies in the normal state are directed against invading organisms and are protective proteins. These antibodies are protective proteins with long half lives, and cannot be destroyed because they are not recognized as being harmful to the body. The immune system thinks it is doing “the right thing” by producing autoantibodies against pemphigus antigens.

Antibodies last a long time; they have a half life of about 3 weeks. Once programmed to respond they are very durable. So the disease is not going to respond to treatment rapidly. It takes time - time and a lot of intensive therapy over months and years to try to down regulate that effect. The other problem is that we don’t know how to block the instructions from the immune system that reacts against a single protein, such as to block that one protein against desmoglein.In PV we know of 2 specific genes that are involved with the disease process. In Jews it is the DR4 gene, and in Northern India, China and Japan it is DQ1. There are also other less frequent genes that can predispose a person to this disease, but these are the key ones.

The basic approaches used to treat pemphigus are: Prednisone, Immunosuppressive drugs, and new therapies like IVIg and Rituximab. However, to date there is nothing that targets the specific protein. The Peptimmune trial drug, if it works, will target the specific protein.